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Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG. Cooper PE, et al. Among authors: nichols cg. Hum Mutat. 2014 Jul;35(7):809-13. doi: 10.1002/humu.22555. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24700710 Free PMC article.
Clinical utility gene card for: Cantú syndrome.
Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK. Kirk EP, et al. Among authors: nichols cg. Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051078 Free PMC article. No abstract available.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG. Ma A, et al. Among authors: nichols cg. Am J Med Genet A. 2019 Aug;179(8):1585-1590. doi: 10.1002/ajmg.a.61200. Epub 2019 Jun 7. Am J Med Genet A. 2019. PMID: 31175705 Free PMC article.
315 results